NEDMABA
MCID: NRD081
MIFTS: 23
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Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies (NEDMABA)
Categories:
Genetic diseases, Neuronal diseases, Respiratory diseases
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Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...
MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies:
Name: Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies
57
73
6
17
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
death in infancy may occur HPO:31
neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies:
Onset and clinical course death in infancy Inheritance autosomal recessive inheritance Classifications: |
OMIM® :
57
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (NEDMABA) is an autosomal recessive disorder characterized by severe global developmental delay, usually with hypotonia and absence of spontaneous movements other than head control, impaired intellectual development with absent speech, distal contractures, progressive microcephaly, dysmorphic features, and distal skeletal abnormalities, such as rocker-bottom feet and clenched hands with camptodactyly. Brain imaging tends to show a simplified gyral pattern of the cerebral cortex, delayed myelination, thin corpus callosum, and hypoplasia of the brainstem and cerebellum. The disorder may be complicated by feeding and/or breathing difficulties, often resulting in death in infancy (summary by Magini et al., 2019). (618622) (Updated 05-Mar-2021)
MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies, is also known as nedmaba. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies is SMPD4 (Sphingomyelin Phosphodiesterase 4). Affiliated tissues include brain, cortex and cerebellum, and related phenotypes are short neck and diabetes mellitus UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies: An autosomal recessive disorder characterized by severe global developmental delay, severely impaired intellectual development with poor or absent speech, severe encephalopathy, microcephaly with simplified gyral pattern, hypomyelination, thin corpus callosum, mild cerebellar hypoplasia, brainstem hypoplasia, congenital arthrogryposis, dysmorphic features, and respiratory problems often leading to early demise. |
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Human phenotypes related to Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies:31 (show all 42)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618622 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies:40
Brain,
Cortex,
Cerebellum,
Heart
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Articles related to Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies:
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ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies:6
UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies:73
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Search
GEO
for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies.
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